L4L (p.Leu4Leu) variant of MUSK (O15146)
L4L (p.Leu4Leu) in MUSK (O15146) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- rs374456998
- gnomAD 9-110668916-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.69
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available